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Penetrance

Known as: Genetic Penetrance 
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From… 
National Institutes of Health

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Anticipation, GeneticGenes, Modifier

Papers overview

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2003
2003
Penetrance and Phenotype of the Cys433Arg Myocilin Mutation in a Family Pedigree with Primary Open-Angle Glaucoma
PurposeTo evaluate the penetrance and the clinical characteristics of the Cys433Arg myocilin mutation in a family pedigree with… 
Review
2000
Review
2000
Detecting low penetrance genes in cancer: the way ahead
The search for the genes responsible for many complex genetic diseases is well under way and has already been successful in some… 
1991
1991
Sex Differences and Age-Dependent Penetrance in FAP-Type I
Women are known to be less often affected with FAP-I, and to have later onset. There were 625 men and 447 women affected — a sex… 
Highly Cited
1986
Highly Cited
1986
Cutaneous malignant melanoma and familial dysplastic nevi: evidence for autosomal dominance and pleiotropy.
Segregation of familial cutaneous melanoma has been shown to be compatible with autosomal dominant transmission with incomplete… 
1986
1986
DNA linkage studies in the fragile X syndrome suggest genetic heterogeneity.
Previously, we showed genetic heterogeneity for linkage between the fra(X) locus and a factor IX DNA RFLP (Brown et al, 1985… 
1983
1983
Relative risks of diseases in the presence of incomplete penetrance and sporadics.
In most diseases of contemporary interest to epidemiology, the importance of familial risk factors is often assessed by relative… 
Highly Cited
1982
Highly Cited
1982
Familial granulomatous arteritis with polyarthritis of juvenile onset.
Granulomatous arteritis, which occurs through cell-mediated immune mechanisms, can be seen in several disease states. This… 
1971
1971
The Beckwith-Wiedemann syndrome. Seven new cases.
Seven cases of the Beckwith-Wiedemann syndrome are reported. The features of the syndrome may include macroglossia, omphalocele… 
1970
1970
Dietary and genetic control of the expression of autogenous reproduction in Aedes atropalpus (Coq.) (Diptera: Culicidae).
Both genetic and dietary factors influence autogenous reproduction in Aedes atropalpus . Although the complete absence of adult… 
1969
1969
Familial type IV hyperlipoproteinemia.
Abstract A 17-year-old girl with asymptomatic hyperlipemia was found to have a Type IV hyperpre-beta-lipoproteinemia. The…